Canonical Allele Identifier: CA172125

Gene: DNM2

Linked Data

• ClinVar Variation Id: 158524
• ClinVar RCV Id: RCV000145915 ; RCV000247852 ; RCV000350567 ; RCV000396653 ; RCV001668289
• dbSNP Id: rs147026993
• ExAC: 19:10870499 C / A
• gnomAD v2: 19-10870499-C-A
• gnomAD v3: 19-10759823-C-A
• gnomAD v4: 19-10759823-C-A
• MyVariant Identifiers: chr19:g.10870499C>A (hg19) ; chr19:g.10759823C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10759823C>A , CM000681.2:g.10759823C>A	GRCh38
NC_000019.9:g.10870499C>A , CM000681.1:g.10870499C>A	GRCh37
NC_000019.8:g.10731499C>A	NCBI36
NG_008792.1:g.46745C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682285.1:n.423+12C>A
ENST00000682524.1:n.423+12C>A
ENST00000683738.1:n.423+12C>A
ENST00000355667.11:c.235+12C>A	ENSP00000347890.6:n.235+12C>A
ENST00000389253.9:c.235+12C>A MANE Select	ENSP00000373905.4:n.235+12C>A
ENST00000355667.10:c.235+12C>A	ENSP00000347890.6:n.235+12C>A
ENST00000359692.10:c.235+12C>A	ENSP00000352721.6:n.235+12C>A
ENST00000389253.8:c.235+12C>A	ENSP00000373905.3:n.235+12C>A
ENST00000408974.8:c.235+12C>A	ENSP00000386192.3:n.235+12C>A
ENST00000585892.5:c.235+12C>A	ENSP00000468734.1:n.235+12C>A
ENST00000586939.5:c.-240+12C>A	ENSP00000467430.1:n.-240+12C>A
NM_001005360.2:c.235+12C>A	NP_001005360.1:n.235+12C>A
NM_001005361.2:c.235+12C>A	NP_001005361.1:n.235+12C>A
NM_001005362.2:c.235+12C>A	NP_001005362.1:n.235+12C>A
NM_001190716.1:c.235+12C>A	NP_001177645.1:n.235+12C>A
NM_004945.3:c.235+12C>A	NP_004936.2:n.235+12C>A
NM_001005361.3:c.235+12C>A MANE Select	NP_001005361.1:n.235+12C>A
NM_001190716.2:c.235+12C>A	NP_001177645.1:n.235+12C>A
NM_001005360.3:c.235+12C>A	NP_001005360.1:n.235+12C>A
NM_001005362.3:c.235+12C>A	NP_001005362.1:n.235+12C>A
NM_004945.4:c.235+12C>A	NP_004936.2:n.235+12C>A